Nature Reviews Nephrology最新文献

Advancing gender equity to improve kidney care for women: a patient perspective 促进性别平等，改善女性肾脏护理：患者视角

IF 41.5 1区医学

Nature Reviews Nephrology Pub Date : 2024-11-19 DOI: 10.1038/s41581-024-00909-y

Annalijn I. Conklin, Sofia B. Ahmed

引用次数: 0

Collagen formation, function and role in kidney disease. 胶原蛋白的形成、功能和在肾病中的作用。

IF 28.6 1区医学

Nature Reviews Nephrology Pub Date : 2024-11-15 DOI: 10.1038/s41581-024-00902-5

Vanessa De Gregorio, Moumita Barua, Rachel Lennon

{"title":"Collagen formation, function and role in kidney disease.","authors":"Vanessa De Gregorio, Moumita Barua, Rachel Lennon","doi":"10.1038/s41581-024-00902-5","DOIUrl":"https://doi.org/10.1038/s41581-024-00902-5","url":null,"abstract":"Highly abundant in mammals, collagens define the organization of tissues and participate in cell signalling. Most of the 28 vertebrate collagens, with the exception of collagens VI, VII, XXVI and XXVIII, can be categorized into five subgroups: fibrillar collagens, network-forming collagens, fibril-associated collagens with interrupted triple helices, membrane-associated collagens with interrupted triple helices and multiple triple-helix domains with interruptions. Collagen peptides are synthesized from the ribosome and enter the rough endoplasmic reticulum, where they undergo numerous post-translational modifications. The collagen chains form triple helices that can be secreted to form a diverse array of supramolecular structures in the extracellular matrix. Collagens are ubiquitously expressed and have been linked to a broad spectrum of disorders, including genetic disorders with kidney phenotypes. They also have an important role in kidney fibrosis and mass spectrometry-based proteomic studies have improved understanding of the composition of fibrosis in kidney disease. A wide range of therapeutics are in development for collagen and kidney disorders, including genetic approaches, chaperone therapies, protein degradation strategies and anti-fibrotic therapies. Improved understanding of collagens and their role in disease is needed to facilitate the development of more specific treatments for collagen and kidney disorders.","PeriodicalId":19059,"journal":{"name":"Nature Reviews Nephrology","volume":" ","pages":""},"PeriodicalIF":28.6,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142639391","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Kidney disease and reproductive health 肾病和生殖健康

IF 41.5 1区医学

Nature Reviews Nephrology Pub Date : 2024-11-05 DOI: 10.1038/s41581-024-00901-6

Priscilla A. Smith, Ippokratis Sarris, Katherine Clark, Kate Wiles, Kate Bramham

{"title":"Kidney disease and reproductive health","authors":"Priscilla A. Smith, Ippokratis Sarris, Katherine Clark, Kate Wiles, Kate Bramham","doi":"10.1038/s41581-024-00901-6","DOIUrl":"https://doi.org/10.1038/s41581-024-00901-6","url":null,"abstract":"Understanding the relationship between reproductive health and kidney function is important to provide holistic care for people living with kidney disease. Chronic kidney disease (CKD) has negative impacts on both male and female fertility owing to factors including inflammation, hormonal dysregulation, reduced ovarian reserve, reduced sperm quality and sexual dysfunction. However, pregnancy is achievable for most cisgender women with kidney disease, including kidney transplant recipients and patients on dialysis. CKD in pregnancy is associated with health risks to the mother and child, including increased risk of progression of kidney disease, hypertensive complications of pregnancy, and neonatal complications including fetal growth restriction, preterm birth and stillbirth. However, with appropriate pre-pregnancy counselling, fertility assessment and support, health optimization, and evidence-based antenatal care, the majority of patients will achieve a good outcome. Medication safety should be reviewed before and during pregnancy and lactation, weighing the risk of disease flare against potential adverse effects on the offspring. Important areas for further research include the optimal timing of delivery and the short- and long-term cardiovascular and renal impacts of pregnancy in patients with CKD, as well as long-term kidney and cardiovascular outcomes in their offspring.","PeriodicalId":19059,"journal":{"name":"Nature Reviews Nephrology","volume":"87 1","pages":""},"PeriodicalIF":41.5,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142580703","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

ECM remodelling by ADAMTS12 in fibrosis 纤维化过程中 ADAMTS12 对 ECM 的重塑作用

IF 28.6 1区医学

Nature Reviews Nephrology Pub Date : 2024-10-30 DOI: 10.1038/s41581-024-00905-2

Susan J. Allison

引用次数: 0

A guide to gene–disease relationships in nephrology 肾脏病学基因与疾病关系指南

IF 41.5 1区医学

Nature Reviews Nephrology Pub Date : 2024-10-23 DOI: 10.1038/s41581-024-00900-7

Zornitza Stark, Alicia B. Byrne, Matthew G. Sampson, Rachel Lennon, Andrew J. Mallett

{"title":"A guide to gene–disease relationships in nephrology","authors":"Zornitza Stark, Alicia B. Byrne, Matthew G. Sampson, Rachel Lennon, Andrew J. Mallett","doi":"10.1038/s41581-024-00900-7","DOIUrl":"https://doi.org/10.1038/s41581-024-00900-7","url":null,"abstract":"The use of next-generation sequencing technologies such as exome and genome sequencing in research and clinical care has transformed our understanding of the molecular architecture of genetic kidney diseases. Although the capability to identify and rigorously assess genetic variants and their relationship to disease has advanced considerably in the past decade, the curation of clinically relevant relationships between genes and specific phenotypes has received less attention, despite it underpinning accurate interpretation of genomic tests. Here, we discuss the need to accurately define gene–disease relationships in nephrology and provide a framework for appraising genetic and experimental evidence critically. We describe existing international programmes that provide expert curation of gene–disease relationships and discuss sources of discrepancy as well as efforts at harmonization. Further, we highlight the need for alignment of disease and phenotype terminology to ensure robust and reproducible curation of knowledge. These collective efforts to support evidence-based translation of genomic sequencing into practice across clinical, diagnostic and research settings are crucial for delivering the promise of precision medicine in nephrology, providing more patients with timely diagnoses, accurate prognostic information and access to targeted treatments.","PeriodicalId":19059,"journal":{"name":"Nature Reviews Nephrology","volume":"1 1","pages":""},"PeriodicalIF":41.5,"publicationDate":"2024-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142487836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

International expert consensus statement on the diagnosis and management of congenital nephrogenic diabetes insipidus (arginine vasopressin resistance) 关于先天性肾源性尿崩症（精氨酸加压素抵抗）诊断和管理的国际专家共识声明

IF 41.5 1区医学

Nature Reviews Nephrology Pub Date : 2024-10-22 DOI: 10.1038/s41581-024-00897-z

Elena Levtchenko, Gema Ariceta, Olga Arguedas Flores, Daniel G. Bichet, Detlef Bockenhauer, Francesco Emma, Ewout J. Hoorn, Linda Koster-Kamphuis, Tom Nijenhuis, Francesco Trepiccione, Rosa Vargas-Poussou, Stephen B. Walsh, Nine V.A.M. Knoers

{"title":"International expert consensus statement on the diagnosis and management of congenital nephrogenic diabetes insipidus (arginine vasopressin resistance)","authors":"Elena Levtchenko, Gema Ariceta, Olga Arguedas Flores, Daniel G. Bichet, Detlef Bockenhauer, Francesco Emma, Ewout J. Hoorn, Linda Koster-Kamphuis, Tom Nijenhuis, Francesco Trepiccione, Rosa Vargas-Poussou, Stephen B. Walsh, Nine V.A.M. Knoers","doi":"10.1038/s41581-024-00897-z","DOIUrl":"https://doi.org/10.1038/s41581-024-00897-z","url":null,"abstract":"Congenital nephrogenic diabetes insipidus (NDI; also known as arginine vasopressin resistance) is a rare inherited disorder of water homeostasis, caused by insensitivity of the distal nephron to arginine vasopressin. Consequently, the kidney loses its ability to concentrate urine, which leads to polyuria, polydipsia and the risk of hypertonic dehydration. The diagnosis and management of NDI are very challenging and require an integrated, multidisciplinary approach. Here, we present 36 recommendations for diagnosis, treatment and follow-up in both children and adults, as well as emergency management, genetic counselling and family planning, for patients with NDI. These recommendations were formulated and graded by an international group of experts in NDI from paediatric and adult nephrology, urology and clinical genetics from the European Rare Kidney Disease Reference Network and the European Society of Paediatric Nephrology, as well as patient advocates, and were validated by a voting panel in a Delphi process. The goal of these recommendations is to provide guidance to health care professionals who care for patients with NDI and to patients and their families. In addition, we emphasize the need for further research on different aspects of this potentially life-threatening disorder to support the development of evidence-based guidelines in the future.","PeriodicalId":19059,"journal":{"name":"Nature Reviews Nephrology","volume":"2 1","pages":""},"PeriodicalIF":41.5,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142452645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Treating AAV by targeting T cell responses 通过靶向 T 细胞反应治疗 AAV

IF 28.6 1区医学

Nature Reviews Nephrology Pub Date : 2024-10-22 DOI: 10.1038/s41581-024-00904-3

Monica Wang

引用次数: 0

Bacteria caught in neutrophil and UMOD traps in urine 尿液中的中性粒细胞和 UMOD 捕集器捕获的细菌

IF 28.6 1区医学

Nature Reviews Nephrology Pub Date : 2024-10-22 DOI: 10.1038/s41581-024-00903-4

Monica Wang

引用次数: 0

A guide to studying 3D genome structure and dynamics in the kidney 肾脏三维基因组结构和动态研究指南

IF 41.5 1区医学

Nature Reviews Nephrology Pub Date : 2024-10-15 DOI: 10.1038/s41581-024-00894-2

Brian J. Beliveau, Shreeram Akilesh

{"title":"A guide to studying 3D genome structure and dynamics in the kidney","authors":"Brian J. Beliveau, Shreeram Akilesh","doi":"10.1038/s41581-024-00894-2","DOIUrl":"https://doi.org/10.1038/s41581-024-00894-2","url":null,"abstract":"The human genome is tightly packed into the 3D environment of the cell nucleus. Rapidly evolving and sophisticated methods of mapping 3D genome architecture have shed light on fundamental principles of genome organization and gene regulation. The genome is physically organized on different scales, from individual genes to entire chromosomes. Nuclear landmarks such as the nuclear envelope and nucleoli have important roles in compartmentalizing the genome within the nucleus. Genome activity (for example, gene transcription) is also functionally partitioned within this 3D organization. Rather than being static, the 3D organization of the genome is tightly regulated over various time scales. These dynamic changes in genome structure over time represent the fourth dimension of the genome. Innovative methods have been used to map the dynamic regulation of genome structure during important cellular processes including organism development, responses to stimuli, cell division and senescence. Furthermore, disruptions to the 4D genome have been linked to various diseases, including of the kidney. As tools and approaches to studying the 4D genome become more readily available, future studies that apply these methods to study kidney biology will provide insights into kidney function in health and disease.","PeriodicalId":19059,"journal":{"name":"Nature Reviews Nephrology","volume":"13 1","pages":""},"PeriodicalIF":41.5,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142435976","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Multidisciplinary collaboration to improve neonatal kidney health 多学科合作改善新生儿肾脏健康

IF 41.5 1区医学

Nature Reviews Nephrology Pub Date : 2024-10-03 DOI: 10.1038/s41581-024-00895-1

Jennifer R. Charlton, David T. Selewski, Matthew W. Harer, David J. Askenazi, Michelle C. Starr, Ronnie Guillet

引用次数: 0